Classification of Mutations Flashcards

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1
Q

Different ways mutations can be classified

A
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2
Q

Classification by Origin - Spontaneous

A
  • Occurs without a mutagen - no external factors
  • Usually due to errors in DNA replication or effect of endogenous compounds present in cell e.g. reactive oxygen species damaging DNA
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3
Q

Classification by Origin - Induced

A
  • Caused by mutagen
    e.g. chemical or physical agent increase rate of mutagenesis
  • Can cause increase rate of spontaneous mutation or damages DNA itself
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4
Q

Classification by cell type - Somatic

A

In non-reproductive cells
- not passed to next generations
- can lead to diseases e.g. cancers + are responsible for aging

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5
Q

Classification by cell type - Germ-line

A

Occurs in reproductive cells
- Mutation will be passed to next generations
- Responsible for genetic variation

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6
Q

Classification by expression - Unconditional

A
  • Mutation is expressed at all times
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7
Q

Classification by expression - Conditional

A
  • Expressed under certain conditions
  • E.g. temperature sensitive will only have a phenotypic effect at certain temps due its effect on proteins
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8
Q

Classification by effect on function: Loss-of-function

A

Also known as a knockout or null mutation
- Eliminated normal function

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9
Q

Classification by effect on function: Hypomorphic

A

Also called ‘leaky’
- Reduces normal function

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10
Q

Classification by effect on function: Hypermorphic

A
  • Increases normal function
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11
Q

Classification by effect on function: Gain-of-function

A

Also known as ectopic expression
- Expressed at the incorrect time or in inappropriate cell types

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12
Q

Mutations’ effect on function

A
  • may be positioned in ‘junk’ DNA (likely no effect), control sequences (control transcription) and protein-coding region
  • May be in promoters (could knock it out causing loss of function or increase protein production)
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12
Q

Classification by molecular change - Base substitution

A

One bp replaced with a different one
-Transition which are more common (pyrimidine -> pyrimidine or purine -> purine) so A-T becomes G-C

  • Transversion - (pyrimidine -> purine or vice versa) A-T becomes T-A for example
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13
Q

Classification by molecular change - Insertion

A

1 or more extra nucleotides present

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14
Q

Classification by molecular change: Deletion

A

1 or more missing nucleotide

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15
Q
A